{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T08:56:31Z","timestamp":1785488191693,"version":"3.56.0"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T00:00:00Z","timestamp":1723593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014093","name":"Galactosemia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014093","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Long\u2010term outcomes in classic galactosemia (CG) have been studied previously, but all prior studies have relied on cohorts of patients that were small in number, or heavily skewed toward children and young adults, or both. Here, we extend what is known about the health and well\u2010being of maturing adults with CG by analyzing the results of anonymous custom surveys completed by 92 affected individuals, ages 30\u201378, and 38 unaffected sibling controls, ages 30\u201379. The median age for patients was 38.5\u2009years and for controls was 41\u2009years. These study participants hailed from 12 different countries predominantly representing Europe and North America. Participants reported on their general life experiences and outcomes in seven different domains including: speech\/voice\/language, cognition, motor function, cataracts, bone health, psychosocial well\u2010being, and gastrointestinal health. We also queried women about ovarian function. Our results indicated a prevalence of long\u2010term complications across all outcome domains that aligned with levels previously reported in younger cohorts. Given the sample size and age range of participants in this study, these findings strongly suggest that the adverse developmental outcomes commonly linked to CG are not progressive with age for most patients. We also tested four candidate modifiers for possible association with each of the outcomes followed, including: days of neonatal milk exposure, rigor of dietary galactose restriction in early childhood, current age, and home continent. We observed no associations that reached even nominal significance, except for the following: cataracts with neonatal milk exposure (<jats:italic>p<\/jats:italic>\u2009=\u20092.347e\u221204), cataracts with age (<jats:italic>p<\/jats:italic>\u2009=\u20090.018), and bone health with home continent (<jats:italic>p<\/jats:italic>\u2009=\u20090.03).<\/jats:p>","DOI":"10.1002\/jimd.12786","type":"journal-article","created":{"date-parts":[[2024,8,15]],"date-time":"2024-08-15T02:33:21Z","timestamp":1723689201000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Health and well\u2010being of maturing adults with classic galactosemia"],"prefix":"10.1002","volume":"48","author":[{"given":"Olivia S.","family":"Garrett","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jared J.","family":"Druss","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Naomi","family":"Vos","sequence":"additional","affiliation":[{"name":"MosaKids Children's Hospital, Department of Pediatrics Maastricht University Medical Center  Maastricht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Ting Debbie","family":"Fu","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Lucia","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia E.","family":"Greenstein","sequence":"additional","affiliation":[{"name":"Department of Neurology Beth Israel Deaconess Medical Center and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Bauer","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism and Pediatrics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanta","family":"Sykut\u2010Cegielska","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism and Pediatrics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina M.","family":"Stepien","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Disorders Department Salford Royal Organization, Northern Care Alliance NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cameron","family":"Arbuckle","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit University College London Hospitals NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Grafakou","sequence":"additional","affiliation":[{"name":"Clinical Genetics and Metabolic Disorders Clinic, Department of Pediatrics Archbishop Makarios III Hospital, State Health Services Organization  Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Kidney, Liver, Metabolic and Neurological Diseases Hannover Medical School  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nele","family":"Vanhoutvin","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology\u2010Hepatology and Metabolic Center University Hospitals Leuven  3000 Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Pan\u00e9","sequence":"additional","affiliation":[{"name":"Endocrinology and Nutrition Department, Hospital Clinic de Barcelona CIBEROBN, Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annet M.","family":"Bosch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology and Metabolism Emma Children's Hospital, Amsterdam UMC, University of Amsterdam  Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estela","family":"Rubio\u2010Gozalbo","sequence":"additional","affiliation":[{"name":"MosaKids Children's Hospital, Department of Pediatrics Maastricht University Medical Center  Maastricht Netherlands"},{"name":"Laboratory of Clinical Genetics Maastricht University Medical Center  Maastricht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard T.","family":"Berry","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, 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